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Showing 1 to 12 of 13 entries
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Primary progressive aphasias associated with C9orf72 expansions: Another side of the story.

Cortex; a journal devoted to the study of the nervous system and behavior

Saracino D, Géraudie A, Remes AM, Ferrieux S, Noguès-Lassiaille M, Bottani S, Cipriano L, Houot M, Funkiewiez A, Camuzat A, Rinaldi D, Teichmann M, Pariente J, Couratier P, Boutoleau-Bretonnière C, Auriacombe S, Etcharry-Bouyx F, Levy R, Migliaccio R, Solje E, Le Ber I.
PMID: 34717271
Cortex. 2021 Dec;145:145-159. doi: 10.1016/j.cortex.2021.09.005. Epub 2021 Oct 01.

C9orf72 repeat expansions are rarely associated with primary progressive aphasias (PPA). In-depth characterization of the linguistic deficits, and the underlying patterns of grey-matter atrophy in PPA associated with the C9orf72 expansions (PPA-C9orf72) are currently lacking. In this study, we...

Plasma microRNA signature in presymptomatic and symptomatic subjects with .

Journal of neurology, neurosurgery, and psychiatry

Kmetzsch V, Anquetil V, Saracino D, Rinaldi D, Camuzat A, Gareau T, Jornea L, Forlani S, Couratier P, Wallon D, Pasquier F, Robil N, de la Grange P, Moszer I, Le Ber I, Colliot O, Becker E.
PMID: 33239440
J Neurol Neurosurg Psychiatry. 2021 May;92(5):485-493. doi: 10.1136/jnnp-2020-324647. Epub 2020 Nov 25.

OBJECTIVE: To identify potential biomarkers of preclinical and clinical progression in chromosome 9 open reading frame 72 gene (METHODS: The PREV-DEMALS study is a prospective study including 22 RESULTS: Four miRNAs were differentially expressed between patients and controls: miR-34a-5p...

ARIA 2016: Care pathways implementing emerging technologies for predictive medicine in rhinitis and asthma across the life cycle.

Clinical and translational allergy

Bousquet J, Hellings PW, Agache I, Bedbrook A, Bachert C, Bergmann KC, Bewick M, Bindslev-Jensen C, Bosnic-Anticevitch S, Bucca C, Caimmi DP, Camargos PA, Canonica GW, Casale T, Chavannes NH, Cruz AA, De Carlo G, Dahl R, Demoly P, Devillier P, Fonseca J, Fokkens WJ, Guldemond NA, Haahtela T, Illario M, Just J, Keil T, Klimek L, Kuna P, Larenas-Linnemann D, Morais-Almeida M, Mullol J, Murray R, Naclerio R, O'Hehir RE, Papadopoulos NG, Pawankar R, Potter P, Ryan D, Samolinski B, Schunemann HJ, Sheikh A, Simons FE, Stellato C, Todo-Bom A, Tomazic PV, Valiulis A, Valovirta E, Ventura MT, Wickman M, Young I, Yorgancioglu A, Zuberbier T, Aberer W, Akdis CA, Akdis M, Annesi-Maesano I, Ankri J, Ansotegui IJ, Anto JM, Arnavielhe S, Asarnoj A, Arshad H, Avolio F, Baiardini I, Barbara C, Barbagallo M, Bateman ED, Beghé B, Bel EH, Bennoor KS, Benson M, Białoszewski AZ, Bieber T, Bjermer L, Blain H, Blasi F, Boner AL, Bonini M, Bonini S, Bosse I, Bouchard J, Boulet LP, Bourret R, Bousquet PJ, Braido F, Briggs AH, Brightling CE, Brozek J, Buhl R, Bunu C, Burte E, Bush A, Caballero-Fonseca F, Calderon MA, Camuzat T, Cardona V, Carreiro-Martins P, Carriazo AM, Carlsen KH, Carr W, Cepeda Sarabia AM, Cesari M, Chatzi L, Chiron R, Chivato T, Chkhartishvili E, Chuchalin AG, Chung KF, Ciprandi G, de Sousa JC, Cox L, Crooks G, Custovic A, Dahlen SE, Darsow U, Dedeu T, Deleanu D, Denburg JA, De Vries G, Didier A, Dinh-Xuan AT, Dokic D, Douagui H, Dray G, Dubakiene R, Durham SR, Du Toit G, Dykewicz MS, Eklund P, El-Gamal Y, Ellers E, Emuzyte R, Farrell J, Fink Wagner A, Fiocchi A, Fletcher M, Forastiere F, Gaga M, Gamkrelidze A, Gemicioğlu B, Gereda JE, van Wick RG, González Diaz S, Grisle I, Grouse L, Gutter Z, Guzmán MA, Hellquist-Dahl B, Heinrich J, Horak F, Hourihane JO, Humbert M, Hyland M, Iaccarino G, Jares EJ, Jeandel C, Johnston SL, Joos G, Jonquet O, Jung KS, Jutel M, Kaidashev I, Khaitov M, Kalayci O, Kalyoncu AF, Kardas P, Keith PK, Kerkhof M, Kerstjens HA, Khaltaev N, Kogevinas M, Kolek V, Koppelman GH, Kowalski ML, Kuitunen M, Kull I, Kvedariene V, Lambrecht B, Lau S, Laune D, Le LT, Lieberman P, Lipworth B, Li J, Lodrup Carlsen KC, Louis R, Lupinek C, MacNee W, Magar Y, Magnan A, Mahboub B, Maier D, Majer I, Malva J, Manning P, De Manuel Keenoy E, Marshall GD, Masjedi MR, Mathieu-Dupas E, Maurer M, Mavale-Manuel S, Melén E, Melo-Gomes E, Meltzer EO, Mercier J, Merk H, Miculinic N, Mihaltan F, Milenkovic B, Millot-Keurinck J, Mohammad Y, Momas I, Mösges R, Muraro A, Namazova-Baranova L, Nadif R, Neffen H, Nekam K, Nieto A, Niggemann B, Nogueira-Silva L, Nogues M, Nyembue TD, Ohta K, Okamoto Y, Okubo K, Olive-Elias M, Ouedraogo S, Paggiaro P, Pali-Schöll I, Palkonen S, Panzner P, Papi A, Park HS, Passalacqua G, Pedersen S, Pereira AM, Pfaar O, Picard R, Pigearias B, Pin I, Plavec D, Pohl W, Popov TA, Portejoie F, Postma D, Poulsen LK, Price D, Rabe KF, Raciborski F, Roberts G, Robalo-Cordeiro C, Rodenas F, Rodriguez-Mañas L, Rolland C, Roman Rodriguez M, Romano A, Rosado-Pinto J, Rosario N, Rottem M, Sanchez-Borges M, Sastre-Dominguez J, Scadding GK, Scichilone N, Schmid-Grendelmeier P, Serrano E, Shields M, Siroux V, Sisul JC, Skrindo I, Smit HA, Solé D, Sooronbaev T, Spranger O, Stelmach R, Sterk PJ, Strandberg T, Sunyer J, Thijs C, Triggiani M, Valenta R, Valero A, van Eerd M, van Ganse E, van Hague M, Vandenplas O, Varona LL, Vellas B, Vezzani G, Vazankari T, Viegi G, Vontetsianos T, Wagenmann M, Walker S, Wang DY, Wahn U, Werfel T, Whalley B, Williams DM, Williams S, Wilson N, Wright J, Yawn BP, Yiallouros PK, Yusuf OM, Zaidi A, Zar HJ, Zernotti ME, Zhang L, Zhong N, Zidarn M.
PMID: 28050247
Clin Transl Allergy. 2016 Dec 30;6:47. doi: 10.1186/s13601-016-0137-4. eCollection 2016.

The Allergic Rhinitis and its Impact on Asthma (ARIA) initiative commenced during a World Health Organization workshop in 1999. The initial goals were (1) to propose a new allergic rhinitis classification, (2) to promote the concept of multi-morbidity in...

Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers.

Alzheimer's & dementia (Amsterdam, Netherlands)

Caroppo P, Camuzat A, De Septenville A, Couratier P, Lacomblez L, Auriacombe S, Flabeau O, Jornéa L, Blanc F, Sellal F, Cretin B, Meininger V, Fleury MC, Couarch P, Dubois B, Brice A, Le Ber I.
PMID: 27239526
Alzheimers Dement (Amst). 2015 Oct 30;1(4):481-6. doi: 10.1016/j.dadm.2015.10.002. eCollection 2015 Dec.

INTRODUCTION: TBK1 mutations represent a rare novel genetic cause of amyotrophic lateral sclerosis (ALS) without or with dementia. The full spectrum of TBK1 phenotypes has not been completely defined so far.METHODS: We describe the clinical and neuroimaging characteristics of...

Plasma NfL levels and longitudinal change rates in .

Journal of neurology, neurosurgery, and psychiatry

Saracino D, Dorgham K, Camuzat A, Rinaldi D, Rametti-Lacroux A, Houot M, Clot F, Martin-Hardy P, Jornea L, Azuar C, Migliaccio R, Pasquier F, Couratier P, Auriacombe S, Sauvée M, Boutoleau-Bretonnière C, Pariente J, Didic M, Hannequin D, Wallon D, Colliot O, Dubois B, Brice A, Levy R, Forlani S, Le Ber I.
PMID: 34349004
J Neurol Neurosurg Psychiatry. 2021 Dec;92(12):1278-1288. doi: 10.1136/jnnp-2021-326914. Epub 2021 Aug 04.

OBJECTIVE: Neurofilament light chain (NfL) is a promising biomarker in genetic frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We evaluated plasma neurofilament light chain (pNfL) levels in controls, and their longitudinal trajectories in METHODS: We analysed pNfL using...

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.

Brain : a journal of neurology

Barbier M, Camuzat A, Hachimi KE, Guegan J, Rinaldi D, Lattante S, Houot M, Sánchez-Valle R, Sabatelli M, Antonell A, Molina-Porcel L, Clot F, Couratier P, van der Ende E, van der Zee J, Manzoni C, Camu W, Cazeneuve C, Sellal F, Didic M, Golfier V, Pasquier F, Duyckaerts C, Rossi G, Bruni AC, Alvarez V, Gómez-Tortosa E, de Mendonça A, Graff C, Masellis M, Nacmias B, Oumoussa BM, Jornea L, Forlani S, Van Deerlin V, Rohrer JD, Gelpi E, Rademakers R, Van Swieten J, Le Guern E, Van Broeckhoven C, Ferrari R, Génin E, Brice A, Le Ber I.
PMID: 34687211
Brain. 2021 Oct 22;144(9):2798-2811. doi: 10.1093/brain/awab171.

The G4C2-repeat expansion in C9orf72 is the most common cause of frontotemporal dementia and of amyotrophic lateral sclerosis. The variability of age at onset and phenotypic presentations is a hallmark of C9orf72 disease. In this study, we aimed to...

Plasma NfL levels and longitudinal change rates in .

Journal of neurology, neurosurgery, and psychiatry

Saracino D, Dorgham K, Camuzat A, Rinaldi D, Rametti-Lacroux A, Houot M, Clot F, Martin-Hardy P, Jornea L, Azuar C, Migliaccio R, Pasquier F, Couratier P, Auriacombe S, Sauvée M, Boutoleau-Bretonnière C, Pariente J, Didic M, Hannequin D, Wallon D, Colliot O, Dubois B, Brice A, Levy R, Forlani S, Le Ber I.
PMID: 34349004
J Neurol Neurosurg Psychiatry. 2021 Dec;92(12):1278-1288. doi: 10.1136/jnnp-2021-326914. Epub 2021 Aug 04.

OBJECTIVE: Neurofilament light chain (NfL) is a promising biomarker in genetic frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We evaluated plasma neurofilament light chain (pNfL) levels in controls, and their longitudinal trajectories in METHODS: We analysed pNfL using...

Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics.

Neurology. Genetics

Barbier M, Camuzat A, Houot M, Clot F, Caroppo P, Fournier C, Rinaldi D, Pasquier F, Hannequin D, Pariente J, Larcher K, Brice A, Génin E, Sabbagh A, Le Ber I.
PMID: 29264395
Neurol Genet. 2017 Dec 13;3(6):e203. doi: 10.1212/NXG.0000000000000203. eCollection 2017 Dec.

OBJECTIVE: To quantify the effect of genetic factors and generations influencing the age at onset (AAO) in families with frontotemporal lobar dementia (FTD) due to METHODS: We studied 504 affected individuals from 133 families with RESULTS: A generational effect...

New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers.

Frontiers in neuroscience

Viodé A, Fournier C, Camuzat A, Fenaille F, Latouche M, Elahi F, Le Ber I, Junot C, Lamari F, Anquetil V, Becher F.
PMID: 30210275
Front Neurosci. 2018 Aug 28;12:589. doi: 10.3389/fnins.2018.00589. eCollection 2018.

Frontotemporal dementia (FTD) is a fatal neurodegenerative disease characterized by behavioral and language disorders. The main genetic cause of FTD is an intronic hexanucleotide repeat expansion (G

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations.

Neurology. Genetics

Caroppo P, Camuzat A, Guillot-Noel L, Thomas-Antérion C, Couratier P, Wong TH, Teichmann M, Golfier V, Auriacombe S, Belliard S, Laurent B, Lattante S, Millecamps S, Clot F, Dubois B, van Swieten JC, Brice A, Le Ber I.
PMID: 27280171
Neurol Genet. 2016 May 26;2(3):e80. doi: 10.1212/NXG.0000000000000080. eCollection 2016 Jun.

OBJECTIVES: We describe the largest series of patients with TARDBP mutations presenting with frontotemporal dementia (FTD) and review the cases in the literature to precisely characterize FTD diseases associated with this genotype.METHODS: The phenotypic characteristics of 29 TARDBP patients,...

Plasma microRNA signature in presymptomatic and symptomatic subjects with .

Journal of neurology, neurosurgery, and psychiatry

Kmetzsch V, Anquetil V, Saracino D, Rinaldi D, Camuzat A, Gareau T, Jornea L, Forlani S, Couratier P, Wallon D, Pasquier F, Robil N, de la Grange P, Moszer I, Le Ber I, Colliot O, Becker E.
PMID: 33239440
J Neurol Neurosurg Psychiatry. 2021 May;92(5):485-493. doi: 10.1136/jnnp-2020-324647. Epub 2020 Nov 25.

OBJECTIVE: To identify potential biomarkers of preclinical and clinical progression in chromosome 9 open reading frame 72 gene (METHODS: The PREV-DEMALS study is a prospective study including 22 RESULTS: Four miRNAs were differentially expressed between patients and controls: miR-34a-5p...

Erratum to: Scaling up strategies of the chronic respiratory disease programme of the European Innovation Partnership on Active and Healthy Ageing (Action Plan B3: Area 5).

Clinical and translational allergy

Bousquet J, Farrell J, Crooks G, Hellings P, Bel EH, Bewick M, Chavannes NH, de Sousa JC, Cruz AA, Haahtela T, Joos G, Khaltaev N, Malva J, Muraro A, Nogues M, Palkonen S, Pedersen S, Robalo-Cordeiro C, Samolinski B, Strandberg T, Valiulis A, Yorgancioglu A, Zuberbier T, Bedbrook A, Aberer W, Adachi M, Agusti A, Akdis CA, Akdis M, Ankri J, Alonso A, Annesi-Maesano I, Ansotegui IJ, Anto JM, Arnavielhe S, Arshad H, Bai C, Baiardini I, Bachert C, Baigenzhin AK, Barbara C, Bateman ED, Beghé B, Kheder AB, Bennoor KS, Benson M, Bergmann KC, Bieber T, Bindslev-Jensen C, Bjermer L, Blain H, Blasi F, Boner AL, Bonini M, Bonini S, Bosnic-Anticevitch S, Boulet LP, Bourret R, Bousquet PJ, Braido F, Briggs AH, Brightling CE, Brozek J, Buhl R, Burney PG, Bush A, Caballero-Fonseca F, Caimmi D, Calderon MA, Calverley PM, Camargos PAM, Canonica GW, Camuzat T, Carlsen KH, Carr W, Carriazo A, Casale T, Cepeda Sarabia AM, Chatzi L, Chen YZ, Chiron R, Chkhartishvili E, Chuchalin AG, Chung KF, Ciprandi G, Cirule I, Cox L, Costa DJ, Custovic A, Dahl R, Dahlen SE, Darsow U, De Carlo G, De Blay F, Dedeu T, Deleanu D, De Manuel Keenoy E, Demoly P, Denburg JA, Devillier P, Didier A, Dinh-Xuan AT, Djukanovic R, Dokic D, Douagui H, Dray G, Dubakiene R, Durham SR, Dykewicz MS, El-Gamal Y, Emuzyte R, Fabbri LM, Fletcher M, Fiocchi A, Fink Wagner A, Fonseca J, Fokkens WJ, Forastiere F, Frith P, Gaga M, Gamkrelidze A, Garces J, Garcia-Aymerich J, Gemicioğlu B, Gereda JE, González Diaz S, Gotua M, Grisle I, Grouse L, Gutter Z, Guzmán MA, Heaney LG, Hellquist-Dahl B, Henderson D, Hendry A, Heinrich J, Heve D, Horak F, Hourihane JOB, Howarth P, Humbert M, Hyland ME, Illario M, Ivancevich JC, Jardim JR, Jares EJ, Jeandel C, Jenkins C, Johnston SL, Jonquet O, Julge K, Jung KS, Just J, Kaidashev I, Khaitov MR, Kalayci O, Kalyoncu AF, Keil T, Keith PK, Klimek L, Koffi N'Goran B, Kolek V, Koppelman GH, Kowalski ML, Kull I, Kuna P, Kvedariene V, Lambrecht B, Lau S, Larenas-Linnemann D, Laune D, Le LTT, Lieberman P, Lipworth B, Li J, Lodrup Carlsen K, Louis R, MacNee W, Magard Y, Magnan A, Mahboub B, Mair A, Majer I, Makela MJ, Manning P, Mara S, Marshall GD, Masjedi MR, Matignon P, Maurer M, Mavale-Manuel S, Melén E, Melo-Gomes E, Meltzer EO, Menzies-Gow A, Merk H, Michel JP, Miculinic N, Mihaltan F, Milenkovic B, Mohammad GMY, Molimard M, Momas I, Montilla-Santana A, Morais-Almeida M, Morgan M, Mösges R, Mullol J, Nafti S, Namazova-Baranova L, Naclerio R, Neou A, Neffen H, Nekam K, Niggemann B, Ninot G, Nyembue TD, O'Hehir RE, Ohta K, Okamoto Y, Okubo K, Ouedraogo S, Paggiaro P, Pali-Schöll I, Panzner P, Papadopoulos N, Papi A, Park HS, Passalacqua G, Pavord I, Pawankar R, Pengelly R, Pfaar O, Picard R, Pigearias B, Pin I, Plavec D, Poethig D, Pohl W, Popov TA, Portejoie F, Potter P, Postma D, Price D, Rabe KF, Raciborski F, Radier Pontal F, Repka-Ramirez S, Reitamo S, Rennard S, Rodenas F, Roberts J, Roca J, Rodriguez Mañas L, Rolland C, Roman Rodriguez M, Romano A, Rosado-Pinto J, Rosario N, Rosenwasser L, Rottem M, Ryan D, Sanchez-Borges M, Scadding GK, Schunemann HJ, Serrano E, Schmid-Grendelmeier P, Schulz H, Sheikh A, Shields M, Siafakas N, Sibille Y, Similowski T, Simons FER, Sisul JC, Skrindo I, Smit HA, Solé D, Sooronbaev T, Spranger O, Stelmach R, Sterk PJ, Sunyer J, Thijs C, To T, Todo-Bom A, Triggiani M, Valenta R, Valero AL, Valia E, Valovirta E, Van Ganse E, van Hage M, Vandenplas O, Vasankari T, Vellas B, Vestbo J, Vezzani G, Vichyanond P, Viegi G, Vogelmeier C, Vontetsianos T, Wagenmann M, Wallaert B, Walker S, Wang DY, Wahn U, Wickman M, Williams DM, Williams S, Wright J, Yawn BP, Yiallouros PK, Yusuf OM, Zaidi A, Zar HJ, Zernotti ME, Zhang L, Zhong N, Zidarn M, Mercier J.
PMID: 28239450
Clin Transl Allergy. 2017 Feb 20;7:5. doi: 10.1186/s13601-016-0135-6. eCollection 2017.

[This corrects the article DOI: 10.1186/s13601-016-0116-9.].

Showing 1 to 12 of 13 entries